Cadherin-23 represents the first in this family of calcium binding proteins of which mutations in the extracellular calcium binding domain contribute to an inherited disorder, Usher syndrome type 1D (USH1D). Patients with USH1D exhibit congenital sensorineural hearing loss, vestibular dysfunction, and visual impairment due to early onset of retinitis pigmentosa (RP). In the inner ear, cadherin-23 interacts with myosin VIIIa and harmonin to form a functional network duing hair cell differentiation, and in the retina to assemble a supra-molecular complex contributing to the organization of the cytoskeletal matrices of the pre- and post-synaptic region. A number of cadherin-23 splice variants exist in association with various phenotypic expression, indicating that differential mutations result in variable presentation of the disease.
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
Formulierung:
Rabbit IgG, 1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2
Application Verdünnung:
WB: 1:500~1:1000
Anwendungsbeschreibung:
CDH23 polyclonal antibody detects endogenous levels of CDH23 protein.
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